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Clinical manifestations and diagnosis of Ehlers-Danlos syndromes

Authors
Susan P Pauker, MD, FACMG
Joan Stoler, MD
Section Editor
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Paul L Romain, MD

INTRODUCTION

Ehlers-Danlos syndrome (EDS) is the term used for a group of relatively rare genetic disorders of connective tissue which are characterized by one or another of several features, including skin hyperextensibility, joint hypermobility, and tissue fragility. The overall frequency of the Ehlers-Danlos syndromes is 1 in 5000, with EDS hypermobility type being by far the most common and some types being quite rare. The disorders are distinguished from one another and can often be diagnosed based upon the family history and clinical criteria, including the degree and nature of involvement of skin, joints, skeleton, and vasculature [1]. The genetic basis for most types of EDS has been defined, other than for the hypermobility type (that is likely genetically heterogeneous), and genetic testing may be useful diagnostically for several of these disorders.

The relationship between EDS, hypermobility type, and joint hypermobility syndrome remains uncertain; some experts have suggested that EDS, hypermobility type, and joint hypermobility syndrome may be manifestations of the same disorder [2,3]. (See 'Hypermobility EDS' below and 'Differential diagnosis' below and "Joint hypermobility syndrome".)

The pathogenesis, clinical manifestations, diagnosis, and differential diagnosis of the major forms of EDS will be presented here. An overview of the management of the Ehlers-Danlos syndromes, the clinical manifestations and treatment of the benign hypermobility syndrome, and overviews of the principles of genetic counseling and testing are reviewed separately. (See "Overview of the management of Ehlers-Danlos syndromes" and "Joint hypermobility syndrome" and "Genetic testing".)

CLASSIFICATION

The Villefranche classification scheme for Ehlers-Danlos syndrome (EDS), which was adopted in 1998, defines six subtypes based upon clinical features, mode of inheritance, and biochemical and genetic findings [1]. This revised nomenclature replaced the prior approach of identifying the different forms by number (eg, EDS Type I) [4]. The clinical diagnoses are based upon a series of major and minor criteria, differing according to EDS type, but additional patients may have overlapping features of different types, and are not easily categorized [5]

The six major types of EDS (and their former nomenclature) are:

                         

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Literature review current through: Aug 2017. | This topic last updated: Jul 08, 2016.
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